ClinVar Miner

List of variants in gene GNAS reported by OMIM

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530 0.00001
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
GNAS, 36-BP DUP, ALA138ASP, PRO161ARG
GNAS, 4.7-KB DEL
GNAS, GLN170ALA
GNAS, IVS3AS, A-G, -12
NG_016194.2:g.[6012_6117gom;19440_19569lom]
NM_000516.7(GNAS):c.1096G>T (p.Ala366Ser) rs137854537
NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr) rs2146305803
NM_000516.7(GNAS):c.112del (p.Arg38fs) rs2145916486
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del) rs1569032751
NM_000516.7(GNAS):c.1163T>G (p.Leu388Arg) rs397514457
NM_000516.7(GNAS):c.1173C>R (p.Tyr391Ter) rs1254063262
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys) rs397514456
NM_000516.7(GNAS):c.1174G>T (p.Glu392Ter) rs397514456
NM_000516.7(GNAS):c.119_139+17del rs2145916749
NM_000516.7(GNAS):c.254dup (p.Asp85fs) rs2146079806
NM_000516.7(GNAS):c.296T>C (p.Leu99Pro) rs137854531
NM_000516.7(GNAS):c.302_303del (p.Glu101fs) rs2146178462
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.348del (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys) rs137854532
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser) rs11554273
NM_000516.7(GNAS):c.601C>G (p.Arg201Gly) rs11554273
NM_000516.7(GNAS):c.617_618del (p.Gly206fs) rs2146271310
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.7(GNAS):c.681G>C (p.Gln227His) rs137854533
NM_000516.7(GNAS):c.692G>A (p.Arg231His) rs137854538
NM_000516.7(GNAS):c.725del (p.Thr242fs) rs1601163749
NM_000516.7(GNAS):c.750C>G (p.Ser250Arg) rs137854534
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.772_773delinsGC (p.Arg258Ala) rs137854536
NM_000516.7(GNAS):c.839+1G>C rs1601164378
NM_000516.7(GNAS):c.860_861del (p.Val287fs) rs2146290056

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